12/05/2013 11:00 AM EST
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National Institutes of Health
National Institutes of HealthPorphyria
Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.
There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.
Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks.
Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.
There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.
Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks.
Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
MEDICAL ENCYCLOPEDIA
National Institutes of Health
- The primary NIH organization for research on Porphyria is the National Institute of Diabetes and Digestive and Kidney Diseases
Start Here
- Porphyria
Overviews
- Porphyria(Mayo Foundation for Medical Education and Research)
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Diagnosis/Symptoms
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First-Line Tests(American Porphyria Foundation)
- Porphyrin Tests(American Association for Clinical Chemistry)
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Treatment
- Porphyria Treatment Options(American Porphyria Foundation)
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Nutrition
- Diet and Nutrition in Porphyria(American Porphyria Foundation)
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Specific Conditions
- Acute Intermittent Porphyria (AIP)(American Porphyria Foundation)
- Congenital Erythropoietic Porphyria (CEP)(American Porphyria Foundation)
- Erythropoietic Protoporphyria (EPP) or Protoporphyria(American Porphyria Foundation)
- Porphyria Cutanea Tarda(American Osteopathic College of Dermatology)
- Porphyria Cutanea Tarda (PCT)(American Porphyria Foundation)
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Related Issues
- Glucose Effect in the Acute Porphyrias(American Porphyria Foundation)
- Porphyria Cutanea Tarda and Agent Orange(Department of Veterans Affairs)
- Weight Loss & Acute Porphyria(American Porphyria Foundation)
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Clinical Trials
- ClinicalTrials.gov: Porphyrias
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- ClinicalTrials.gov: Porphyrias
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Genetics
- Genetics Home Reference: Porphyria
- Learning about Porphyria
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- Genetics Home Reference: Porphyria
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Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)- Article: Images in clinical medicine. Unblinded by the lights.
- Article: Photosensitivity in the elderly-think of late-onset protoporphyria.
- Article: Recurrent porphyria attacks in a Chinese patient with a heterozygous...
- Article: Report of a novel Indian case of congenital erythropoietic porphyria...
- Porphyria -- see more articles
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Directories
- US Porphyria Labs(American Porphyria Foundation)
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Organizations
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Newsletters/Print Publications
- APF Newsletter(American Porphyria Foundation)
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Patient Handouts
- Porphyria
- Porphyria
- Also available in Spanish
- Porphyrins - blood
- Also available in Spanish
- Porphyrins - urine
- Also available in Spanish
- Porphyria
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